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Results: 1 to 20 of 37

Tests names and labsConditionsGenes, analytes, and microbesMethods

Neuromuscular Disorders exome

Genetic Services Laboratory University of Chicago
United States
116137
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Neuromuscular Disorders Panel

Genetic Services Laboratory University of Chicago
United States
116137
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

MVL Vision Panel

Molecular Vision Laboratory
United States
13581028
  • C Sequence analysis of the entire coding region

GMPPB - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
31
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Supplemental Metabolic Newborn Screening Panel

Invitae
United States
253189
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Congenital Myasthenic Syndrome Panel

PreventionGenetics
United States
5831
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Limb girdle muscular dystrophy Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
5035
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Limb girdle muscular dystrophy NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
5035
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Limb girdle muscular dystrophy Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
5035
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14, 615350, Autosomal recessive; MDDGA14 (Muscle-eye-brain disease) (GMPPB gene) (Sequence Analysis-All Coding Exons) (Postnatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14, 615350, Autosomal recessive; MDDGA14 (Muscle-eye-brain disease) (GMPPB gene) (Sequence Analysis-All Coding Exons) (Prenatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14, 615352, Autosomal recessive; MDDGC14 (Autosomal recessive limb-girdle muscular dystrophy type 2T) (GMPPB gene) (Sequence Analysis-All Coding Exons) (Prenatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

NeuromuscularZoom

Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital
United States
480254
  • C Sequence analysis of the entire coding region

Lissencephaly and related disorders Comprehensive test

HNL Genomics Connective Tissue Gene Tests
United States
4642
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Lissencephaly and related disorders Deletion / Duplication test

HNL Genomics Connective Tissue Gene Tests
United States
4642
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Lissencephaly and related disorders NGS test

HNL Genomics Connective Tissue Gene Tests
United States
4642
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Limb girdle muscular dystrophy NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
5035
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Limb girdle muscular dystrophy Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
5035
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Limb girdle muscular dystrophy Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
5035
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Panel

PreventionGenetics
United States
10683
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Results: 1 to 20 of 37

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.